← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-1419461-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1419461&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ANKRD65",
"hgnc_id": 42950,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Gly280Glu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001145210.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 55,
"alphamissense_prediction": null,
"alphamissense_score": 0.8937,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.26029765605926514,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 399,
"aa_ref": "G",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2024,
"cdna_start": 983,
"cds_end": null,
"cds_length": 1200,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001145210.3",
"gene_hgnc_id": 42950,
"gene_symbol": "ANKRD65",
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Gly280Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000537107.6",
"protein_coding": true,
"protein_id": "NP_001138682.1",
"strand": false,
"transcript": "NM_001145210.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 399,
"aa_ref": "G",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2024,
"cdna_start": 983,
"cds_end": null,
"cds_length": 1200,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000537107.6",
"gene_hgnc_id": 42950,
"gene_symbol": "ANKRD65",
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Gly280Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001145210.3",
"protein_coding": true,
"protein_id": "ENSP00000445688.1",
"strand": false,
"transcript": "ENST00000537107.6",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 174,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1976,
"cdna_start": 935,
"cds_end": null,
"cds_length": 525,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000427211.3",
"gene_hgnc_id": 42950,
"gene_symbol": "ANKRD65",
"hgvs_c": "c.298G>A",
"hgvs_p": "p.Asp100Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428419.1",
"strand": false,
"transcript": "ENST00000427211.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 65,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1632,
"cdna_start": null,
"cds_end": null,
"cds_length": 198,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000520296.5",
"gene_hgnc_id": 42950,
"gene_symbol": "ANKRD65",
"hgvs_c": "c.*81G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429035.1",
"strand": false,
"transcript": "ENST00000520296.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 399,
"aa_ref": "G",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1506,
"cdna_start": 925,
"cds_end": null,
"cds_length": 1200,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000454272.2",
"gene_hgnc_id": 42950,
"gene_symbol": "ANKRD65",
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Gly280Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482314.1",
"strand": false,
"transcript": "ENST00000454272.2",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 399,
"aa_ref": "G",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4869,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 1200,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000961299.1",
"gene_hgnc_id": 42950,
"gene_symbol": "ANKRD65",
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Gly280Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631358.1",
"strand": false,
"transcript": "ENST00000961299.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 238,
"aa_ref": "G",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1529,
"cdna_start": 488,
"cds_end": null,
"cds_length": 717,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000897624.1",
"gene_hgnc_id": 42950,
"gene_symbol": "ANKRD65",
"hgvs_c": "c.356G>A",
"hgvs_p": "p.Gly119Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567683.1",
"strand": false,
"transcript": "ENST00000897624.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 174,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1483,
"cdna_start": 442,
"cds_end": null,
"cds_length": 525,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001243535.2",
"gene_hgnc_id": 42950,
"gene_symbol": "ANKRD65",
"hgvs_c": "c.298G>A",
"hgvs_p": "p.Asp100Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230464.1",
"strand": false,
"transcript": "NM_001243535.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 174,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1610,
"cdna_start": 569,
"cds_end": null,
"cds_length": 525,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001375659.1",
"gene_hgnc_id": 42950,
"gene_symbol": "ANKRD65",
"hgvs_c": "c.298G>A",
"hgvs_p": "p.Asp100Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362588.1",
"strand": false,
"transcript": "NM_001375659.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 174,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 876,
"cdna_start": 553,
"cds_end": null,
"cds_length": 525,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000442470.1",
"gene_hgnc_id": 42950,
"gene_symbol": "ANKRD65",
"hgvs_c": "c.298G>A",
"hgvs_p": "p.Asp100Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428201.1",
"strand": false,
"transcript": "ENST00000442470.1",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 399,
"aa_ref": "G",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2057,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1200,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005244752.5",
"gene_hgnc_id": 42950,
"gene_symbol": "ANKRD65",
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Gly280Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005244809.1",
"strand": false,
"transcript": "XM_005244752.5",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 399,
"aa_ref": "G",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2076,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 1200,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_006710647.4",
"gene_hgnc_id": 42950,
"gene_symbol": "ANKRD65",
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Gly280Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006710710.1",
"strand": false,
"transcript": "XM_006710647.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 65,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1464,
"cdna_start": null,
"cds_end": null,
"cds_length": 198,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001243536.2",
"gene_hgnc_id": 42950,
"gene_symbol": "ANKRD65",
"hgvs_c": "c.*81G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230465.1",
"strand": false,
"transcript": "NM_001243536.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 65,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1591,
"cdna_start": null,
"cds_end": null,
"cds_length": 198,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001375660.1",
"gene_hgnc_id": 42950,
"gene_symbol": "ANKRD65",
"hgvs_c": "c.*81G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362589.1",
"strand": false,
"transcript": "NM_001375660.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs773175407",
"effect": "missense_variant",
"frequency_reference_population": 0.000035518704,
"gene_hgnc_id": 42950,
"gene_symbol": "ANKRD65",
"gnomad_exomes_ac": 49,
"gnomad_exomes_af": 0.0000350943,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 6,
"gnomad_genomes_af": 0.0000394109,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.158,
"pos": 1419461,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.516,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001145210.3"
}
]
}